RARE DISEASE AWARENESS DAY FEB 28

As a result of Feb 28th being the RARE DISEASE AWARENESS DAY, I was pondering over the years I have worked with children and adults with a vision impairment. I have certainly come across a lot of differences when it comes to their particular eye condition, related syndrome, medical condition and such varied visual functioning within the same eye condition.

The internet is now enabling families to do some of their own ‘research’ following a new diagnosis to gather initial information and shared stories. The child with a rare condition or syndrome may now be able to make a connection with someone else of the same diagnosis across the other side of the world. There could be a facebook group specifically about it or a forum that’s part of the …Syndrome’s website page.

Working in a number of Special Schools in Victoria, Tasmania and Queensland, many children I supported had multiple impairments. Not only was the vision affected but there were varying degrees of physical impairment, perhaps diagnosed with Cerebral Palsy and a “Cerebral vision impairment”, along with speech deficits and cognitive delays. Sadly, some of those children’s vision loss was discovered late in all the routine medical checks as it wasn’t appearing to be the major disability or affecting their development at the time. It was only later on when speech therapists were attempting to consolidate a useful speaking device with pictures, that the clarity on the pics and the ability to choose from one to another, wasn’t so easy. Their vision impairment was having a large impact on their functional ability to scan, identify and read symbols and words. Any child who has additional impairments to their vision can have sensory challenges as the sensory channels can all be disorganised and atypical.

Did you know that 80-90% of learning is through vision? Naturally, this could explain the reasons why the developmental progress can be slow and why the child is not up and walking as quickly as their sibling did? Perhaps, the second child could not see so clearly the exciting obstacles to walk towards or the ability to judge depth when changing surfaces so venturing out was not so motivating for the child.

In Australia, the Better Start funding that is available for a child under the age of 7, recognises the effect of sensory impairments and the benefits for early intervention to support the child. Criteria in meeting the funding source requires the child to firstly, have a vision and/or hearing impairment plus they could also be diagnosed with:

• Microcephaly
• Deaf/Blindness
• Angelman syndrome
• Cerebral palsy
• CHARGE syndrome
• Cornelia de Lange syndrome
• Cri du Chat syndrome
• Down syndrome including mosaic
• Fragile X syndrome

There is only one name of a syndrome from this list that I have not come across in my 25 years of work with children. I have also been able to link families to others with the same syndromes and relative issues. It’s so important to be informed about the implications of a ‘rare disease’ as initially, there may be minimal indicators. It is all part of the service from ‘Eyes and Independence’.